Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.P895L

CDKL5

651 papers

RefSeq Summary

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm synd...

Pfam Domains

Pkinaseaa 13–297UCSCProtein kinase domain

Gene Aliases

HGNC Name

cyclin dependent kinase like 5

HGNC Previous Symbol

STK9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001323289.2
p.P895L
c.2684C>T
Surrounding Variants
1 paper
NM_001323289.2
p.K896K
c.2688G>A
1 paper
NM_001323289.2
p.R898_P899insT
c.2692_2696ins3
1 paper
NM_001323289.2
p.E892E
c.2676A>G
3 papers
NM_001323289.2
p.Q891_E892insTT
c.2671_2675ins6
1 paper
NM_001323289.2
p.Q891_A894delFs
c.2673_2682del10
1 paper
NM_001323289.2
p.L901L
c.2703C>T
2 papers
NM_001323289.2
p.Q902*
c.2704C>T
1 paper
NM_001323289.2
p.Q902fs
c.2704_2705fs
1 paper
NM_001323289.2
p.Q902delFs
c.2706delG
1 paper
NM_001323289.2
p.N888delFs
c.2663delA
1 paper
NM_001323289.2
p.S887fs
c.2659_2660fs
1 paper
NM_001323289.2
p.S887_I889delFs
c.2660_2666del7
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